List of variants in gene FDXR reported as likely pathogenic for Auditory neuropathy-optic atrophy syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)	rs752143061	0.00004
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)	rs760345680	0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)	rs746953590	0.00002
NM_024417.5(FDXR):c.472G>A (p.Val158Met)	rs1441084539	0.00001
NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser)	rs766147142
NM_024417.5(FDXR):c.368del (p.Gln123fs)	rs2144662023
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)	rs752675360
NM_024417.5(FDXR):c.619A>T (p.Ile207Phe)	rs1598518754

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